Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. - Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele

Prenatal Diagnosis

Volumn 33, Issue 1, 2013, Pages 75-80

  Schoner, Katharina ^a   Kohlhase, Juergen ^b   Müller, Annette M ^c   Schramm, Thomas ^d   Plassmann, Margit ^e   Schmitz, Ralf ^f   Neesen, Juergen ^g   Wieacker, Peter ^f   Rehder, Helga ^a,g  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY HOSPITAL BONN   (Germany)

^d Diagnostik München   (Germany)

^e Center of Prenatal Medicine   (Germany)

^f UNIVERSITY OF MÜNSTER   (Germany)

^g MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

B3GALTL PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOPSY; BRACHYDACTYLY; BRACHYMELIA; CLEFT LIP PALATE; CLINICAL ARTICLE; CORPUS CALLOSUM AGENESIS; DANDY WALKER SYNDROME; ENCEPHALOMENINGOCELE; FETUS; GENE MUTATION; GENETIC ASSOCIATION; GESTATIONAL AGE; GROWTH RETARDATION; HOMOZYGOSITY; HUMAN; HYDROCEPHALUS; HYPERTELORISM; INTRON; LIMB MALFORMATION; MALE; PETERS ANOMALY; PETERS PLUS SYNDROME; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; AGENESIS OF CORPUS CALLOSUM; CLEFT LIP; CLEFT PALATE; CORNEA; DANDY-WALKER SYNDROME; DNA MUTATIONAL ANALYSIS; ENCEPHALOCELE; FEMALE; FETAL GROWTH RETARDATION; GALACTOSYLTRANSFERASES; GENETIC COUNSELING; GESTATIONAL AGE; GLUCOSYLTRANSFERASES; GROWTH DISORDERS; HUMANS; HYDROCEPHALUS; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY, PRENATAL;

EID: 84872144527     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4012     Document Type: Article

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